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Key Features

  • Caused by a deficiency of β-glucocerebrosidase, leading to an accumulation of sphingolipid within phagocytic cells throughout the body

  • Inherited as an autosomal recessive

  • Hundreds of mutations have been found

  • Most common in people of Ashkenazi Jewish ancestry

  • Peripheral neuropathy may develop

  • Two uncommon forms of Gaucher disease, types II and III, involve neurologic accumulation of sphingolipid and neurologic problems

  • Type II is of infantile onset and has a poor prognosis

Clinical Findings

  • Anemia and thrombocytopenia are common and primarily due to hypersplenism, but marrow infiltration with Gaucher cells may be a contributing factor

  • Abdomen can become painfully distended from enlargement of the liver and spleen

  • Cortical erosions of bones, especially vertebrae and femur, are due to local infarctions

  • Bone pain, termed "crises" reminiscent of pain seen in sickle cell disease

Diagnosis

  • Bone marrow aspirates reveal typical Gaucher cells, which have an eccentric nucleus and periodic acid-Schiff–positive inclusions, along with wrinkled cytoplasm and inclusion bodies of a fibrillar type

  • Serum acid phosphatase elevated

  • Deficient glucocerebrosidase activity in leukocytes confirms diagnosis

  • Prenatal diagnosis through mutation analysis is feasible

  • Because of an increased risk of malignancy, especially multiple myeloma and other hematologic cancers, regular screening of adults may be warranted

Treatment

  • Imiglucerase

    • Recombinant form of the enzyme glucocerebrosidase

    • Dosage: 30 units/kg/mo intravenously

    • Reduces total body stores of glycolipid

    • Improves orthopedic and hematologic, but not neurologic, manifestations

  • Eliglustat tartrate, an oral inhibitor of glucosylceramide synthase

    • Reduces the compound that accumulates

    • Eliminates the need for frequent intravenous infusions

  • Enzyme replacement often obviates the need for splenectomy in adults with thrombocytopenia due to splenic sequestration

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